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The phenotype associated with a large deletion on MECP2

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene allowing genetic confirmation of previously unconfirmed cases of clinical Rett syndrome. This study describes the phenotype of those with a large deletion and compares...

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Detalhes bibliográficos
Main Authors: Bebbington, Ami, Downs, Jenny, Percy, Alan, Pineda, Mercé, Zeev, Bruria Ben, Bahi-Buisson, Nadia, Leonard, Helen
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3421119/
https://ncbi.nlm.nih.gov/pubmed/22473088
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.34
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